Autor: Dengzhi Zhao
-
Stepwise genetic testing strategy identified pathogenic variants in 10 Chinese duchenne muscular dystrophy patients
BackgroundDuchenne muscular dystrophy (DMD) results from pathogenic variants in the DMD gene. Despite routine screening using Multiplex Ligation-dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES), a subset of cases remains molecularl…